Fuchs' Genetic Study
For the first time, we are taking a detailed look at Fuchs’ disease progession before a person is treated with a cornea transplant by evaluating its natural progession. This study will provide valuable, insightful data that will help fuel future treatments.
Since 1988, the Cornea Research Foundation has conducted an ongoing long-term observational study on over 12,000 cornea transplant outcomes in partnership with Price Vision Group. Now, we want to take a detailed look at eyes affected with Fuchs’ dystrophy before a transplant. Fuchs’ dystrophy, a leading cause of cornea transplants, affects 4% of people over the age of 40 nationwide. We have conducted several Fuchs’ genetic studies to identify the genetic link and to aid in the development of new treatments. Currently, there are no effective therapeutic interventions to address its root cause.
Design Therapeutics, a research collaborator, is developing a portfolio of product candidates designed to address genetic diseases. Over 70% of Fuchs’ cases are caused by a mutation in the TCF4 gene. Data from this study will be used to plan future treatment studies by gaining a better understanding of disease progression, which will help accurately target the best timing for treatment intervention. Knowing when to timely apply treatment and how to measure success is a significant factor in any intervention’s success.
Target Population
We are looking for study subjects who are at various stages of Fuchs’ progression; from those recently diagnosed, to those in moderate progression that do not yet need a transplant, to those who plan to have a transplant within a year or two.
Study Design:
At the screening visit, a Fuchs’ diagnosis will be confirmed with imaging. After confirmation, each participant will undergo a genetic test via a blood sample to determine if they have the common TCF4 mutation. If found, each participant will receive three comprehensive eye exams in a 12-month period.
Benefits:
- Free genetic testing to confirm mutation on TCF4 gene causing Fuchs’ dystrophy
- 3 comprehensive eye exams at no cost
- Up to $300 - ($100 per visit at screening/baseline, 6 months, 12 months)
Risks:
Participants have no more risk than with any routine blood draw or eye exam.
Participation: How You Can Help
Since Fuchs’ is a genetic condition that runs in families, we hope that you will reach out to your family to see if any members who have a Fuchs’ diagnosis or suspect they have Fuchs’ to come in for a screening. If you have only had a cornea transplant in one eye, your other eye may qualify. If you or someone you know would like to learn more, please contact Shawna Cole, our study coordinator, at 317-814-2994 or Shawna@cornea.org.
Descemet's Stripping Only
For patients with early- to mid-stage Fuchs’ dystrophy, an alternative to DMEK or DSAEK is for your surgeon to remove a small area of unhealthy central endothelium and Descemet membrane using a technique known as DSO / DWEK. Rather than implanting donor corneal tissue, which generally provides visual recovery in 1 to 3 weeks, you wait for your own endothelial cells to migrate from the intact peripheral area to cover the central area from which the unhealthy cells were removed.
After the cells migrate, they can begin removing fluid from the central cornea to help your vision clear without the use of donor tissue. We have been evaluating a novel growth factor that can be injected into the eye to speed visual recovery after DSO. Dr. Francis Price reported encouraging findings from this study at a recent World Cornea Congress.
Understanding How Fuchs' Develops
We collect corneal tissue from transplant patients to help identify the underlying causes of this leading reason for corneal transplantation. If we can find the cause we will be better positioned to develop treatments to halt the progression of the disease.
New Treatments to Alleviate Painful Dry Eye
Dry Eye is common, affecting 10% of the population, and can be debilitating, particularly after eye surgery. We continue to investigate new, innovative treatments.
Contact-Lens Related Eye Infections
We are conducting a genetic study to find out why certain people are more susceptible to contact lens-related eye infections.
Corneal Strengthening Treatment For Keratoconus
Keratoconus causes thinning and bulging of the cornea and can require a cornea transplant. We participated in studies leading to FDA approval of “crosslinking”, a treatment that strengthens the cornea to prevent keratoconus. During a crosslinking treatment, the cornea is saturated with riboflavin (vitamin B) and then exposed to light to trigger a photochemical reaction that stiffens the cornea. We are conducting a randomized study to determine whether an accelerated 10-minute treatment with a higher intensity light is equivalent to the approved 30-minute treatment with a lower intensity light to ease the patient experience.
Determining correct dosing of anti-rejection medications in DMEK patients
The standard regimen of post-operative medications for cornea transplant recipients include antibiotics and relatively strong steroid eye drops taken to prevent your immune system from rejecting the new donor tissue. Having helped pioneer the DMEK technique and observing that DMEK had such a low risk of rejection, Dr. Price and the Cornea Research Foundation embarked on a series of studies to evaluate corticosteroid eye drop strength and dosing regimens over the last several years.
The goal of the studies were to protect the transplant from immunologic graft rejection while reducing the corticosteroid side effects. This is important because we know through tracking our transplant outcomes that 1 in 3 patients will experience the unfortunate side effect of pressure increases within one year using a standard steroid eye drop regimen. If left untreated, the pressure problems can eventually lead to glaucoma and cause permanent vision loss.
Within the studies, we compared 3 different steroid medications of varying strength. Groups of patients were randomized to receive different steroid eye drops and were followed for one year. We evaluated the health of their transplant as well as any pressure changes within that year. Once patients reached the one year mark, they were given the option to either stay on the drop, switch to a lower dose if they were on the highest dose, or go off the drops entirely. Whichever they chose, we continued to examine the transplant and the eye pressure regularly.
We found that the risk of rejection was very low even when patients switched to a low-strength steroid eye drop at 1 month. So now we reduce steroid strength at 1 to 2 months after DMEK and that substantially reduces the risk of pressure elevation.
A few of those who discontinued steroid eye drops at one year (about 1 out of 17) experienced a rejection episode. In most cases it was mild and could be successfully treated by resuming steroids. Usually, the patient didn’t even realize they were having a rejection episode - our doctors detected it during one of the planned study examinations. Those who chose to continue using a low-strength eye drop did not experience any incidence of graft rejection episodes or pressure increases. Therefore our current recommendation is to stay on the low dose steroid long term.
We continue to monitor the progress of these individuals over the long run. We believe the findings from our anti-rejection medication studies will allow us to reduce the incidence of future glaucoma development in cornea transplant patients, particularly since many new DMEK surgeons are adopting our recommended dosing through the sharing of our results in leading ophthalmology publications.
Eye Drops for Presbyopia
As we age, the lens inside our eye has more difficulty fully adjusting to help us see up close. We participated in the clinical studies that resulted in the first eye drop (Vuity®) approved to treat presbyopia which preserves our ability to see up close and avoid the need for reading glasses.
Corneal Neovascularization
We are conducting 2 studies to evaluate the use of corneal crosslinking in conjunction with antibiotics to treat corneal ulcers caused by bacterial or fungal infections. We are enrolling patients with untreated corneal ulcers into the first study and patients with ulcers that have not responded well to standard treatment into the second study.
Corneal Ulcers
We are conducting 2 studies to evaluate the use of corneal crosslinking in conjunction with antibiotics to treat corneal ulcers caused by bacterial or fungal infections. We are enrolling patients with untreated corneal ulcers into the first study and patients with ulcers that have not responded well to standard treatment into the second study.
Neurotrophic Keratitis
People sometimes lose sensation in the cornea, because of disease, such as herpes virus, or because of trauma, chemical injury, or contact lens abuse. Loss of sensation reduces tear production and blinking. It can ultimately lead to a corneal ulcer or corneal perforation. We are evaluating the use of eye drops that contain a novel human growth factor to help heal the cornea.